Canonical Allele Identifier: CA394377057

Gene: PKD1

Linked Data

• dbSNP Id: rs1176758659
• gnomAD v2: 16-2159730-C-G
• gnomAD v4: 16-2109729-C-G
• MyVariant Identifiers: chr16:g.2159730C>G (hg19) ; chr16:g.2109729C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.2109729C>G , CM000678.2:g.2109729C>G	GRCh38
NC_000016.9:g.2159730C>G , CM000678.1:g.2159730C>G	GRCh37
NC_000016.8:g.2099731C>G	NCBI36
NG_008617.1:g.31170G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000262304.9:c.5438G>C MANE Select	ENSP00000262304.4:p.Gly1813Ala
ENST00000262304.8:c.5438G>C	ENSP00000262304.4:p.Gly1813Ala
ENST00000415938.7:n.310+2611G>C
ENST00000423118.5:c.5438G>C	ENSP00000399501.1:p.Gly1813Ala
ENST00000468674.5:n.431-379G>C
ENST00000483024.1:c.233+2087G>C
ENST00000483731.5:n.790+2611G>C
ENST00000487932.5:c.125G>C	ENSP00000457132.1:p.Gly42Ala
ENST00000488185.2:c.473-1371G>C
ENST00000565639.6:n.773+2611G>C
ENST00000568591.5:c.2226+2611G>C	ENSP00000457162.1:n.2226+2611G>C
ENST00000569983.5:n.421+2611G>C
NM_000296.3:c.5438G>C	NP_000287.3:p.Gly1813Ala
NM_001009944.2:c.5438G>C	NP_001009944.2:p.Gly1813Ala
XM_005255370.2:c.2393G>C	XP_005255427.1:p.Gly798Ala
XM_011522525.1:c.5516G>C	XP_011520827.1:p.Gly1839Ala
XM_011522526.1:c.5516G>C	XP_011520828.1:p.Gly1839Ala
XM_011522527.1:c.5516G>C	XP_011520829.1:p.Gly1839Ala
XM_011522528.1:c.5492G>C	XP_011520830.1:p.Gly1831Ala
XM_011522529.1:c.5492G>C	XP_011520831.1:p.Gly1831Ala
XM_011522530.1:c.5462G>C	XP_011520832.1:p.Gly1821Ala
XM_011522531.1:c.5444G>C	XP_011520833.1:p.Gly1815Ala
XM_011522532.1:c.5390G>C	XP_011520834.1:p.Gly1797Ala
XM_011522533.1:c.5309G>C	XP_011520835.1:p.Gly1770Ala
XM_011522534.1:c.5252G>C	XP_011520836.1:p.Gly1751Ala
XM_011522535.1:c.3338G>C	XP_011520837.1:p.Gly1113Ala
XM_011522536.1:c.5516G>C	XP_011520838.1:p.Gly1839Ala
XM_011522537.1:c.2516G>C	XP_011520839.1:p.Gly839Ala
XR_932867.1:n.5531G>C
XR_932868.1:n.5531G>C
XR_932869.1:n.5531G>C
XR_932870.1:n.5531G>C
XM_005255370.3:c.2393G>C	XP_005255427.1:p.Gly798Ala
XM_011522528.3:c.5492G>C	XP_011520830.1:p.Gly1831Ala
XM_011522529.2:c.5492G>C	XP_011520831.1:p.Gly1831Ala
XM_011522537.2:c.2516G>C	XP_011520839.1:p.Gly839Ala
XM_024450298.1:c.5558G>C	XP_024306066.1:p.Gly1853Ala
XM_024450299.1:c.5486G>C	XP_024306067.1:p.Gly1829Ala
XM_024450300.1:c.5348G>C	XP_024306068.1:p.Gly1783Ala
XM_024450301.1:c.3434G>C	XP_024306069.1:p.Gly1145Ala
NM_000296.4:c.5438G>C	NP_000287.4:p.Gly1813Ala
NM_001009944.3:c.5438G>C MANE Select	NP_001009944.3:p.Gly1813Ala